ID   GM20031
AC   CVCL_9Y49
DR   CLO; CLO_0028354
DR   Coriell; GM20031
DR   Wikidata; Q54850786
CC   Population: Caucasian; Scottish.
CC   Sequence variation: Mutation; HGNC; HGNC:6091; INSR; Simple; p.Asn458Asp (c.1372A>G) (N431D); ClinVar=VCV000014714; Zygosity=Homozygous (Coriell=GM20031).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84676; Donohue syndrome
DI   ORDO; Orphanet_508; Leprechaunism
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   0-3M
CA   Finite cell line
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 12
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